Newborn Screening in Japan

• Autres auteurs: Tajima, Toshihiro (Éditeur intellectuel), Yamaguchi, Seiji (Éditeur intellectuel)
• Format: Électronique Chapitre de livre
• Langue: anglais
• Publié: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• Sujets: Medicine; homocystinuria; cystathionine β-synthase deficiency; newborn screening; long-term outcome; social outcome; vitamin B6; methionine; phenylketonuria; hyperphenylalaninemia; phenylalanine hydroxylase; genetic analysis; neonatal screening; genotype-phenotype correlation; adult patients; Japanese; intellectual disability; psychiatric disability; treatment discontinuation; congenital hypothyroidism; Japan; re-evaluations; prevalence; lowering of thyroid stimulating hormone screening cutoffs; thyroid dysgenesis; thyroid dyshormonogenesis; transient congenital hypothyroidism; permanent congenital hypothyroidism; delayed rise in TSH; low birth weight; propionic acidemia; tandem mass spectrometry; propionylcarnitine; cardiomyopathy; QT prolongation; congenital adrenal hyperplasia; 21-hydroxylase deficiency; methylmalonic acidemia; disorders of cobalamin metabolism; hypomethioninemia; isomer; stable-isotope dilution; derivatization; cobalamin; biotin; maternal 3-methylcronylglycinuria; argininosuccinic acid; spinal muscular atrophy; SMN1; deletion; incidence; peroxisomal disorders; adrenoleukodystrophy; very-long-chain fatty acids; plasmalogen; phytanic acid; presymptomatic diagnosis; ABCD1; whole-exome sequencing; dried blood spot; galactosemia; GALM; GALM deficiency; glycogen storage disease type 1a; allele-specific PCR; mCOP-PCR; melting curve; n/a
• Accès en ligne: DOAB: download the publication; DOAB: description of the publication

"Newborn Screening in Japan-2021" is a topical collection of the International Journal of Neonatal Screening. Japan's newborn mass screening (NBS) was started in 1977 at the national level as a national project. Subsequently, screening was conducted for six diseases. From 2014 a tande...